Intestinal failure or congenital diarrhoeaGene: CLMP
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:36 p.m. | Last Modified: 3 Mar 2022, 4:36 p.m.
Panel Version: 1.46
Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 23 Mar 2021, 8:48 a.m. | Last Modified: 23 Mar 2021, 8:48 a.m.
Panel Version: 1.9
Genes for CSB not available on any other GMS panel/overlap with intestinal failure presentation
PMID: 33384711 - 2 brothers with compound het LOF variants
PMID: 31061750 - 1 proband with homozygous LOF CLMP variants
PMID: 27720179 1 proband with compound het LOF variants
PMID: 27352967: 3 patients from 2 families
PMID: 22155368 - initial paper
Created: 16 Mar 2021, 12:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital short bowel
Tag Q2_21_rating was removed from gene: CLMP. Tag Q2_21_NHS_review was removed from gene: CLMP.
Source Expert Review Green was added to CLMP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: CLMP. Tag Q2_21_NHS_review tag was added to gene: CLMP.
Gene: clmp has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CLMP were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:615237
Publications for gene: CLMP were set to 27352967; 22155368; 33384711; 31061750
Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750
gene: CLMP was added gene: CLMP was added to Intestinal failure. Sources: Literature Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750 Phenotypes for gene: CLMP were set to Congenital short bowel Penetrance for gene: CLMP were set to unknown Review for gene: CLMP was set to GREEN